Sickle Cell Anemia
thumb|300px|left Sickle cell anemia, '''also known as Sickle Cell Disease', is an inherited disease which causes red blood cells to become "C-shaped", or "sickled" instead of the normal disc-shape. Symptoms People who suffer from this desease inherit it from birth, although most people dont show any signs or symptoms until they are about 4 months old. The most common symptoms are feeling tired and weak, shortness of breath, dizziness, headache, cold hands and feet, pale skin and chest pain. Another common symptom is sudden pain throughout the body, which is known as a sickle cell crisis. These can vary from mild to severe pain. A mild sickle cell crisis can last from a few hours to a few days while a severe sickle cell crisis can last from a few weeks to a few months. Additionally, sickle cell crises can occur about 1-15 times per year, varying from person to person. Diagnosis In the United States, all states screen for hemoglobin disorders at birth, usually through hemoglobin electrophoresis, and prenatal genetic screening can also be used to detect the disease within the first few motnhs of pregnancy. Children resulting in producing hemoglobin S instead of hemoglobin A are postive with the disease. Early detection is vital with those affected, for children who test positively need treatment promptly. Prognosis In the United States the average life expectance for males with sickle cell anemia is 42 years old and for women it is 48 years old. The most common causes of death associated with sickle cell anemia are bacterial infections, stroke, and kidney, heart, or liver failure. Possible Treatments Although very risky and not always successful, bone marrow transplants are the only cure for sickle cell anemia. The transplant has been found to be successful in severely affected children but adults have been found to reject it. However, there treatments to alleviate the symptoms and complications of the disease. Various medicines, both prescription and over-the-counter, along with fluids can be used for mild pain. Severe sickle cell anemia can call for the use of hydroxyura, used for preventing pain attacks caused by the disease. Blood transfusions are used to treat worsening anemia and complications, and can prevent even stroke or pneumonia. Routine check-ups can help catch infections, eye damage and acute chest syndrome early and treatment can be given properly. Research for new methods in curing sickle cell are ongoing; the use of gene therapy, butryic acid, nitric oxide and decitadine are all being studied in hoped of helping cure the disease. Frequency The most common inherited blood disorder in the United States and the most common single gene disorder in African Americans, sickle cell anemia affects about 72,000 Americans or every 1 in 375 African American. So many Africans carry the sickle-cell allele because heterozygotes have some resistance to the parasite carrying malaria, a mosquito-borne and fatal disease extremely common in the sub-Saharan Africa, but the disease can affect anyone. About two million people are carriers. Method of Inheritance Because sickle cell anemia is an autosomal recessive disease, both parents must carry the recessive gene to pass down to their children. If the child only receives one sickle cell gene, then he or she as the condition called ''sickle cell trait. Those who have sickle cell trait do not have sickle cell anemia, but instead carry one copy of the gene that causes it. Both those who have sickle cell anemia or sickle cell trait can pass down the disease to their children. The sickle cell gene is a point mutation in the nucleotide sequence of the hemoglobin beta gene, known as HBB, found on chromosome 11. Normal red blood cells with the usual hemoglobin A (HbA) are small and round, making it easy for them to squeeze through blood vessels. However, the mutation in HBB, changing the nucleotide sequence GAG (glutamic acid) to GTG (valine), results in the production of abnormal hemoglobin, called hemoglobin S (HbS). The mutated HbS produces valine, causing the hemoglobin to clump together in low oxygen levels or high hemoblogin concentrations and causing the red blood cell to have its distinct sickle shape. These sickled red blood cells have difficulty flowing through the blood vessels and clump in small capillaries, which in turn results in various parts of the body not getting enough blood. Additional Facts *Other types of sickle cell disease other than sickle cell anemia are sickle-hemoglobin C disease (SC), sickle beta-plus thalassemia and sickle beta-zero thalassemia. *Unlike normal red blood cells, which can live for 120 days, sickle-shaped cells live only 10 to 20 days. *The disease most commonly affects African-Americans, and about 1 out of every 500 African-American babies born in the United States has sickle cell anemia. *Most people with sickle cell anemia are immune to malaria because the sickle celled blood cannot host the malaria parasite. *September is National Sickle Cell Awareness Month *In 2004 the U.S. Postal Service issued the Sickle Cell Disease Awareness Stamp to help increase public awareness of such health issues. *Sickle cell anemia is also known as Hemoglobin SS disease, Hemoglobin S disease, HbS disease, SS and Sickle cell disorders. *Vernon Mason named the disease "sickle-cell anaemia" in 1922. *Well known persons diagnosed with sickle cell anemia include jass musician Miles Davis, The Temptations singer Paul Williams, The Marvelettes singer Georgeanna Tillman, TLC singer Tionne "T-Boz" Watkins, and rapper Mobb Deep aka "Prodigy". Ways to Help *Donate money to support research in finding the cure *Start fundraisers and get the whole community informed and involved *Volunteer at research facilities More information on how you can help can be found on the Sickle Cell Disease Association of America Web site. Gallery Sickle Cell.jpg|Sickled cells in the blood stream. bloodstream.jpg|Vessels clogged with sickled blood cells. HBB sequence.gif|The mutated nucleotide sequence of hemoglobin S compared to the usual hemoglobin A. map.gif|A map illustrating the distribution of people infected with sickle cell anemia. Sickle_Cell_stamp.jpg|The U.S. Postal stamp released in 2004 raising awareness of sickle cell disease. References Your Genes Your Health National Heart Lung and Blood Institute National Center for Biology Information Sickle Cell Disease Association of America